Weitere Antikörper gegen AVPR2 Interaktionspartner

Human Arginine Vasopressin Receptor 2 (AVPR2) Interaktionspartner

the present studies have now identified a promising lead compound that could function as a pharmacoperone to correct the trafficking defect of the NDI-associated mutant V2R L83Q and thus has the therapeutic potential for the treatment of NDI.

A hemizygous, missense mutation was identified at the position 80(th) in exon 2 (p.H80Y) of arginine vasopressin receptor 2 (AVPR2) in the proband, and the proband's mother, maternal aunt and grandmother were heterozygous and his maternal uncle was hemizygous for this mutation.

Being a rapid diagnostic tool for congenital nephrogenic diabetes insipidus , direct sequencing of AVPR2 should be encouraged in newborns with familial predisposition to congenital nephrogenic diabetes insipidus.

A novel 22.1-kb deletion in AVPR2 was identified, leading to X-linked nephrogenic diabetes insipidus in a Chinese pedigree.

Here we provide an updated overview of the genetic defects causing NDI, the most recent strategies under investigation for rescuing the activity of mutated AVPR2 or AQP2, or for bypassing defective AVPR2 signaling and restoring AQP2 plasma membrane expression.

Data found Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking

An overview of AVPR2 mutations in genetic forms of nephrogenic diabetes insipidus (review)

this case report describes a case of congenital nephrogenic diabetes insipidus with an AVPR2 gene I324M missense mutation; this is the first report of this mutation in patients with congenital nephrogenic diabetes insipidus

the canceling of the desensitization effect of OPC51803 by the pharmacochaperone effect after long-term treatment may produce sustainable signaling, and thus pharmacochaperone agonists such as OPC51803 may serve as promising therapeutics for NDI caused by misfolded V2R mutants.

Data suggest that the congenital congenital nephrogenic diabetes insipidus (NDI) in the patient, his mother and grandmother was probably due to mutation of the arginine vasopressin receptor 2 (AVPR2) gene.

a splice site mutation in AVPR2 leads to partial X-linked NDI in two brothers.

A heterozygous deletion in exon 1 of the AVPR2 gene is associated with nephrogenic diabetes insipidus.

In this study, we identified and characterized a new gain-of function mutation of the V2R, which leads to nephrogenic syndrome of inappropriate diuresis.

We present a novel mutation in codon 137 within AVPR2 with substitution of glycine for arginine in male dizygotic twins.

Rescue of the N321K-V2R function by Val(4)-desmopressin action in nephrogenic diabetes insipidus.

X-linked nephrogenic diabetes insipidus and severity of illness in this family is caused by a novel deletion in the AVPR2 gene

AVP acting at V2R does not appear to regulate water losses from body fluids other than renal excretion during exercise.

This review summarizes some of the unexpected roles of V2R signaling and suggests that vasopressin signaling itself may contribute crucially to loss of polarity and enhanced proliferation in cystic kidney epithelium.

52 disease-causing mutations of AVPR2 were identified. missense mutations were most common (54%), followed by deletion mutations. 64 women who had monoallelic disease-causing AVPR2 mutations, 16 had NDI symptoms, including 4 complete NDI subjects

AQP1, AQP2, and AQP3, and V2R expression increased with gestation age in the fetal kidney, suggesting that this induction might contribute to the maturation of urinary concentrating capacity

Type 2 vasopressin receptor (V2R) is in primary cilia of renal epithelial cells. There is also a functional cAMP-signaling pathway, which targets ciliary channel function and may help control the sensory function of the primary cilium.

Data show that upon heteromer formation with secretin receptor (SCTR), R137H, a nephrogenic diabetes insipidus (NDI)-causing vasopressin receptor 2 (AVPR2) mutant that is defective in trafficking to cell surface, can functionally be rescued.

Conditional inactivation of Elf5 in the developing collecting ducts results in a small but significant reduction in the expression levels of Aqp2 and Avpr2 genes.

Data show that cryptochrome Cry1 and Cry2 expression must be circadian and appropriately phased to support rhythms, and arginine vasopressin (AVP) receptor signaling is required to impose circuit-level circadian function.

In polycystic kidney disease, structural or functional loss of cilia leads to abnormal trafficking of AQP2/V2R leading to enhanced salt and water absorption.

AVPR2 expression levels in the kidneys of male TALLYHO/JngJ mice, independent of diabetes disease state, were significantly reduced compared with those of B6 mice.

Nav and Cav conductances, along with a more positive inactivation voltage of the Nav current in the V2r1b vomeronasal sensory neurons, contributed to the larger spike amplitude and higher spike frequency induced by depolarizing current

Describe VRQ397 (CRAVKY), a potent noncompetitive antagonist of V2R, which exhibits functional selectivity, in line with properties of a negative allosteric modulator.

AVPR2 Antigen-Profil

Beschreibung des Gens

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing.